Ontology highlight
ABSTRACT:
SUBMITTER: Amado M
PROVIDER: S-EPMC4069814 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Amado Marta M Calado Maria Angelina MA Ferreira Rui R Lourenço Teresa T
BMJ case reports 20140613
Marfan syndrome (MFS) is a genetic disorder of the connective tissue which rarely manifests in the neonatal period and has an ominous prognosis. A case of a first female offspring of healthy parents is described here. The pregnancy was uneventful and the mother had a term caesarean delivery. At birth, some dysmorphic signs became apparent, such as loose redundant skin, dolichocephaly, frontal bossing, deeply sunken eyes, micrognathia, contractures of the elbows, arachnodactyly and hip dysplasia. ...[more]